Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Leg ulcers of juvenile onset are uncommon. The infectious origin is fairly frequent but the presence of leg ulcers in children should prompt an investigation into possible underlying causes especially hemangioma, vasculitis, inborn errors of metabolism (i.e. prolidase deficiency), hemoglobinopathies, occult spinal dysraphism and immunodeficiencies. Bacteriological investigations are essential and a skin biopsy specimen may be able to differentiate some of these disorders.
 ...
PMID:[Particular aspects of ulcers in children]. 941 52

Hemoglobin S/O(Arab) (Hb S/O(Arab)) is a rare compound heterozygous hemoglobinopathy characterized by the presence of two variant beta-globin chains: beta6Glu --> Val (Hb S) and beta121Glu --> Lys (Hb O(Arab)). The diagnosis of Hb S/O(Arab) requires electrophoresis on both cellulose acetate and citrate agar, since Hb O(Arab) co-migrates with Hb C at alkaline pH and close to Hb S at acidic pH. To date only case reports and small series of patients with Hb S/O(Arab) have been described. To better characterize the clinical and laboratory aspects of this unusual disorder, we reviewed the Duke University Medical Center experience. We identified 13 African-American children and adults with Hb S/O(Arab) ranging in age from 2.7 to 62.5 years. All patients had hemolytic anemia with a median Hb of 8.7 gm/dL (range 6.1-9.9 gm/dL), and a median reticulocyte count of 5.8% (range 1.2-10.3%). The peripheral blood smear typically showed sickled erythrocytes, target cells, polychromasia, and nucleated red blood cells. All 13 patients have had significant clinical sickling events including acute chest syndrome (11), recurrent vasoocclusive painful events (10), dactylitis (7), gallstones (5), nephropathy (4), aplastic crises (2), avascular necrosis (2), leg ulcers (2), cerebrovascular accident (CVA) (1), osteomyelitis (1), and retinopathy (1). Four patients have died, including two from pneumococcal sepsis/meningitis at ages 5 and 10 years, one of acute chest syndrome at age 14 years, and one of multiorgan failure at age 35 years. We conclude that Hb S/O(Arab) disease is a severe sickling hemoglobinopathy with laboratory and clinical manifestations similar to those of homozygous sickle cell anemia.
 ...
PMID:Hemoglobin S/O(Arab): thirteen new cases and review of the literature. 1020 1

Sickle cell disease (SCD), the commonest single gene disorder worldwide, is an inherited disease that has different clinical and hematological manifestations in different populations. The objective of this study is to describe the characteristics of the Lebanese SCD population. This was a retrospective study that included information on 387 patients with either sickle cell anemia (SS) or sickle beta-thalassemia (ST). The mean (+/-SD) age was 17.9 years (+/-12.5), and the mean (+/-SD) follow-up was 9.3 +/- 6.9 years. Fifty percent of the patients were males and SS/ST distribution was 3 : 1. The disease was clustered in two geographic areas in North and South Lebanon. Nearly, all patients were Muslims and 56% were the offspring of consanguineous parents. The prevalence of splenomegaly beyond 6 years of age among SS patients was 28.9%. The prevalence rates of stroke, leg ulcers and priapism were 4.1%, 1.4%, and 0.8%, respectively. Comparing the SS and the ST patients, there were no statistically significant differences in the prevalence of all clinical manifestations except for splenomegaly (SS: 28.9%, ST: 54.9%, P-value < 0.001) and splenectomy (SS: 16.1%, ST: 35.7%, P-value < 0.001). In contrast to Northern American populations and similar to some Mediterranean populations, Lebanese SCD patients have a higher prevalence of persistent splenomegaly. The relatively low incidence of thrombotic complications deserves further investigation. The study's limitations include those of any other retrospective study and the fact that not all Lebanese centers caring for inherited hemoglobin disorders were included. However, the results of this first large scale national survey indicate that preventive efforts should target the Northern and Southern regions of Lebanon to decrease the number of new off springs afflicted with this disease similar to what has been successfully achieved with Thalassemia, another hemoglobinopathy that is highly prevalent in the country.
 ...
PMID:Sickle cell disease: the Lebanese experience. 1798 93

Sickle cell disease (SCD) is an important public health issue in Bahia, Brazil. Erythrocyte transfusions may reduce morbidity of SCD, however, they are associated with numerous risks. Among other risk categories, alloimmunization to red cell antigens may result from transfusions. The aim of this study was to compare the clinical profile of transfused adult SCD patients with and without alloantibodies. The study included 108 patients (105 homozygous SS and three with hemoglobinopathy SC), followed in the Outpatient Unit of the Hematology and Hemotherapy Center of Bahia. A retrospective review of clinical records of adult SCD patients who received at least three red blood cell transfusions from 2004 to 2007 was performed. Transfusion units were phenotypically matched for ABH-D and C,c,E,e, and K antigens. Alloimmunization developed in 56 patients (53 SS and three SC). The most prevalent alloantibodies were anti-E, anti-K, and anti-C (39.3%, 21.4%, and 16.1%, respectively). Age, sex and positive antiglobulin test displayed statistically significant differences. Prevalence of clinical complications such as leg ulcers, stroke, and others did not show differences between groups. In conclusion, alloimmunization did not significantly modify the clinical outcomes of SCD patients from Bahia, Brazil.
 ...
PMID:Alloimmunization and clinical profile of sickle cell disease patients from Salvador-Brazil. 2050 98

Sickle cell disease, the most common inherited hemoglobinopathy in the United States, is a group of autosomal recessive red cell disorders resulting from hemoglobin S. Hemoglobin S forms rigid polymers when deoxygenated that give red blood cells their sickle crescent shape. Increased viscosity and cell adhesion result in vasoocclusion. Universal screening of US newborns enables early detection. Prophylactic penicillin through age 5 years and pneumococcal immunization lower the risk of serious pneumococcal infections. Vasoocclusive crises are a major complication and cause severe pain; there is no objective confirmatory test. Intravenous hydration and rapid pain treatment with parenteral opioids are indicated for severe pain. Acute chest syndrome presents as a new pulmonary infiltrate with acute onset of symptoms of lower respiratory disease with or without fever. Stroke, acute ocular conditions, leg ulcers, priapism, and anemia are common complications of sickle cell disease. Hydroxyurea decreases sickling, improves red cell survival, and reduces the frequency of vasoocclusive crises. Hydroxyurea should be considered if three or more vasoocclusive crises occur per year. Multiple therapeutic transfusions are required, and the risks of iron overload and blood antibody development are high. Increased maternal-fetal risk occurs in pregnancy with sickle cell disease.
...
PMID:Hematologic Disorders: Sickle Cell Disease. 2608 Apr 56

Major hemoglobinopathies, including sickle cell anemia, are becoming a global health issue. Leg ulcers are the most common cutaneous manifestation of sickle cell disease and an important contributor to morbidity burden in this population. Leg ulcers following sickling disorders are extremely painful, and hard to heal. The clinical evidence for the optimal management of these ulcers is limited. Treating the cause and the strategies to prevent sickling are the mainstay of treatment. The basic principles of wound bed preparation and compression therapy is beneficial in these patients.
...
PMID:Hemoglobinopathies and Leg Ulcers. 2629 89

Sickle cell disease (SCD) is an inherited hemoglobinopathy characterized by a wide range of clinical manifestations. Chronic leg ulcers are a disabling complication with repercussions on the quality of life. We report the case of a 14-year-old girl with a diagnosis of SCD who developed a chronic leg ulcer that was successfully treated with a multi-disciplinary approach, including local and systemic therapies. The role of different treatments, in particular low molecular weight heparin, in the refractory chronic leg ulcer healing process will be discussed.
...
PMID:Successful Management of a Chronic Refractory Leg Ulcer in an Adolescent with Sickle Cell Anemia. 2647 7

Sickle cell disease (SCD) is the most common hemoglobinopathy in the US, affecting approximately 100,000 individuals in the US and millions worldwide. Pain is the hallmark of SCD, and a subset of patients experience pain virtually all of the time. Of interest, the arginine metabolome is associated with several pain mechanisms highlighted in this review. Since SCD is an arginine deficiency syndrome, the contribution of the arginine metabolome to acute and chronic pain in SCD is a topic in need of further attention. Normal arginine metabolism is impaired in SCD through various mechanisms that contribute to endothelial dysfunction, vaso-occlusion, pulmonary complications, risk of leg ulcers, and early mortality. Arginine is a semiessential amino acid that serves as a substrate for protein synthesis and is the precursor to nitric oxide (NO), polyamines, proline, glutamate, creatine, and agmatine. Since arginine is involved in multiple metabolic processes, a deficiency of this amino acid has the potential to disrupt many cellular and organ functions. NO is a potent vasodilator that is depleted in SCD and may contribute to vaso-occlusive pain. As the obligate substrate for NO production, arginine also plays a mechanistic role in SCD-related pain, although its contribution to pain pathways likely extends beyond NO. Low global arginine bioavailability is associated with pain severity in both adults and children with SCD as well as other non-SCD pain syndromes. Preliminary clinical studies of arginine therapy in SCD demonstrate efficacy in treating acute vaso-occlusive pain, as well as leg ulcers and pulmonary hypertension. Restoration of arginine bioavailability through exogenous supplementation of arginine is, therefore, a promising therapeutic target. Phase II clinical trials of arginine therapy for sickle-related pain are underway and a Phase III randomized controlled trial is anticipated in the near future.
...
PMID:The role of the arginine metabolome in pain: implications for sickle cell disease. 2709 28